ClinVar Miner

Submissions for variant NM_032193.4(RNASEH2C):c.255G>A (p.Val85=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003600170 SCV004475618 likely benign Aicardi-Goutieres syndrome 3 2023-11-15 criteria provided, single submitter clinical testing

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